Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Otospondylomegaepiphyseal dysplasia COL11A2 disease C4520892 Biomarker 1 disgenet
Otospondylomegaepiphyseal dysplasia COL11A2 disease C4520892 GermlineCausalMutation 1 disgenet
Otospondylomegaepiphyseal dysplasia COL11A2 disease C4520892 GeneticVariation 1 disgenet
Otospondylomegaepiphyseal dysplasia COL11A2 disease C4520892 CausalMutation 1 disgenet
Otospondylomegaepiphyseal dysplasia COL2A1 disease C4520892 CausalMutation 0.61 disgenet
Otospondylomegaepiphyseal dysplasia COL2A1 disease C4520892 GeneticVariation 0.61 disgenet
Otospondylomegaepiphyseal dysplasia COL2A1 disease C4520892 Biomarker 0.61 disgenet
Otospondylomegaepiphyseal dysplasia DPP4 disease C4520892 Biomarker 0.01 disgenet
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